2021年12月24日 · An 8-month-old female presents with ambigous genitalia. Her urinary ketosteroids and 17-OH progesterone are twice the normal level. Additionally, testosterone …

2021年5月23日 · 21-hydroxylase Deficiency Most common form Defects of the CYP21A2 gene leads to defective 21-hydroxylase enzyme , which is responsible for the conversion of 17 …

2021年1月4日 · Adrenal enzyme deficiency resulting in increase in products proximally and decrease in products distally results in hyperplasia because there is an inability to produce the …

2017年5月9日 · Hey, do you know a way to remember the Congenital Adrenal Hyperplasia and it's enzyme deficiencies? It's the same mnemonic that everyone uses: The 1 looks like an up …

21 hydroxylase catalyzes the hydroxylation of 17-hydroxyprogesterone to 11-deoxycortisol in the glucocorticoid pathway. Deficiency of this enzyme compromises cortisol production, leading to …

2024年10月25日 · Infants with 21β-hydroxylase deficiency can present with shock within the first few weeks of life because of severe dehydration due to an adrenal crisis and salt-wasting due …

2023年7月31日 · 21-hydroxylase deficiency is an autosomal recessive disorder caused by a deficiency in one of the enzymes required for the synthesis of cortisol in the adrenal glands. 21 …

2002年2月26日 · 21-hydroxylase deficiency (21-OHD) is the most common cause of congenital adrenal hyperplasia (CAH), a family of autosomal recessive disorders involving impaired …

21-羟化酶缺乏症（21-hydroxylase deficiency，21-OHD）是 先天性肾上腺增生症 （congenital adrenal hyperplasia，CAH）中最常见的类型，是由于编码21-羟化酶的CYP21A2基因缺陷导致 …

21-Hydroxylase (CYP21A2) deficiency causes defective conversion of adrenal precursors to cortisol and, in some cases, to aldosterone, sometimes resulting in severe hyponatremia and …